Christian Gilissen

Nijmegen, GE 6525GA, Netherlands

Last Updated: 09/26/2026

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Found 244 publications

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Journal: The New England journal of medicine

Published: June 15, 2026

Distinct mechanisms of CNV formation at the human 15q13.3 locus.

Distinct mechanisms of CNV formation at the human 15q13.3 locus.

Journal: bioRxiv : the preprint server for biology

Published: March 23, 2026

Near-perfect genome sequencing in medical genetics.

Near-perfect genome sequencing in medical genetics.

Journal: Nature genetics

Published: February 04, 2026

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

Journal: American journal of human genetics

Published: December 22, 2025

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.

Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.

Journal: Molecular psychiatry

Published: October 02, 2025

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 23, 2025

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 23, 2025

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Journal: Investigative ophthalmology & visual science

Published: June 04, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

Mutational Landscape of Colorectal Tumors From Individuals With Unexplained Adenomatous or Serrated Colorectal Polyposis.

Mutational Landscape of Colorectal Tumors From Individuals With Unexplained Adenomatous or Serrated Colorectal Polyposis.

Journal: Gastroenterology

Published: May 29, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Journal: medRxiv : the preprint server for health sciences

Published: January 20, 2025

Showing 1-12 of 244

Last Updated: 09/26/2026